Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.

Journal of inherited metabolic disease - 1 Nov 2021

Pizzamiglio Chiara, Mahroo Omar A, Khan Kamron N, Patasin Maria, Quinlivan Rosaline

Abstract excerpt

McArdle disease is caused by recessive mutations in PYGM gene. The condition is considered to cause a "pure" muscle phenotype with symptoms including exercise intolerance, inability to perform isometric activities, contracture, and acute rhabdomyolysis leading to acute renal failure. This is a retrospective observational study aiming to describe phenotypic and genotypic features of a large cohort of patients with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Glycogen
Share to Glycogen Storage Disease Type V

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscle Weakness

Share to Retinal Dystrophies

Share to Rhabdomyolysis

Share to Thyroid Diseases

Share to United Kingdom

Source

Identifiers

PMID: 34534370
DOI: 10.1002/jimd.12438

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.PMID 34534370Read ↗

The phenotypic and genotypic features of a Scottish cohort with McArdle disease.Semantic proximity Read ↗

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.Semantic proximity Read ↗

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.Semantic proximity Read ↗

Clinical and molecular characterization of McArdle's disease in Brazilian patients.Semantic proximity Read ↗

Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).Semantic proximity Read ↗

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Semantic proximity Read ↗

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.Semantic proximity Read ↗

Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.Semantic proximity Read ↗

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.Semantic proximity Read ↗

Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.Semantic proximity Read ↗

McArdle disease: molecular genetic update.Semantic proximity Read ↗

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.